Hughes L O, McCarthy R E, Glasier C M
Arkansas Children's Hospital and Arkansas Spine Center, Little Rock 72202, USA.
J Pediatr Orthop. 1998 Mar-Apr;18(2):227-32.
Segmental spinal dysgenesis is an uncommon congenital spinal defect characterized by localized segmental agenesis of the upper lumbar or thoracolumbar spine. Bony defects include significant focal canal stenosis, hypoplastic or absent vertebrae, subluxation of the spinal column, and instability. The distal bony architecture is usually normal but may be bifid. There is significant narrowing of the thecal sac and absence of adjacent nerve roots at the level of the lesion. Distal neurologic deficits are variable in severity, the prevalence of neurogenic bladder is high, and associated anomalies are common. Progressive kyphosis is inevitable. The cause is unknown, but an association with maternal diabetes and with various medications and toxins has been noted. Other authors suggested a relation to an aberrant segmental vascular supply. Treatment should be directed at the establishment and maintenance of spinal stability and arrest of the progressive kyphosis. It should consist of early anterior and posterior arthrodesis, with or without anterior decompression of the cord. Accurate visualization of this unusual deformity is difficult with conventional radiographic techniques. Three-dimensional computerized tomographic reconstruction can therefore be invaluable in preoperative planning. We report three cases of segmental spinal dysgenesis, all of which have been uniquely detailed by striking three-dimensional imaging studies.
节段性脊柱发育不全是一种罕见的先天性脊柱缺陷，其特征为上腰椎或胸腰椎节段性局部发育不全。骨质缺陷包括明显的局灶性椎管狭窄、椎体发育不全或缺失、脊柱半脱位和不稳定。远端骨质结构通常正常，但可能呈双裂状。病变水平处硬脊膜囊明显变窄且相邻神经根缺失。远端神经功能缺损的严重程度各不相同，神经源性膀胱的患病率较高，且常伴有其他异常。进行性脊柱后凸不可避免。病因不明，但已注意到与母亲糖尿病以及各种药物和毒素有关。其他作者认为与节段性血管供应异常有关。治疗应旨在建立和维持脊柱稳定性，并阻止进行性脊柱后凸。应包括早期前后路融合术，可伴有或不伴有脊髓前路减压。传统放射学技术难以准确显示这种不寻常的畸形。因此，三维计算机断层扫描重建在术前规划中可能非常有价值。我们报告三例节段性脊柱发育不全病例，所有病例均通过引人注目的三维成像研究进行了独特而详细的描述。
